SNP Links for Gene (Select 26050) - SNP

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Select item 14915704291.

rs1491570429 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 13:87672855 (GRCh38)
13:88325111 (GRCh37)
Canonical SPDI:: NC_000013.11:87672855:T:TT
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000332/1 (GnomAD)
HGVS:: NC_000013.11:g.87672856dup, NC_000013.10:g.88325111dup

Select item 14914197402.

rs1491419740 has merged into rs67126449 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 13:87672879 (GRCh38)
13:88325134 (GRCh37)
Canonical SPDI:: NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:87672854:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000013.11:g.87672855GT[12], NC_000013.11:g.87672855GT[13], NC_000013.11:g.87672855GT[14], NC_000013.11:g.87672855GT[15], NC_000013.11:g.87672855GT[16], NC_000013.11:g.87672855GT[17], NC_000013.11:g.87672855GT[18], NC_000013.11:g.87672855GT[19], NC_000013.11:g.87672855GT[20], NC_000013.11:g.87672855GT[21], NC_000013.11:g.87672855GT[22], NC_000013.11:g.87672855GT[23], NC_000013.11:g.87672855GT[24], NC_000013.11:g.87672855GT[25], NC_000013.11:g.87672855GT[26], NC_000013.11:g.87672855GT[28], NC_000013.11:g.87672855GT[29], NC_000013.11:g.87672855GT[30], NC_000013.11:g.87672855GT[31], NC_000013.11:g.87672855GT[32], NC_000013.11:g.87672855GT[33], NC_000013.11:g.87672855GT[34], NC_000013.11:g.87672855GT[35], NC_000013.11:g.87672855GT[36], NC_000013.11:g.87672855GT[37], NC_000013.10:g.88325110GT[12], NC_000013.10:g.88325110GT[13], NC_000013.10:g.88325110GT[14], NC_000013.10:g.88325110GT[15], NC_000013.10:g.88325110GT[16], NC_000013.10:g.88325110GT[17], NC_000013.10:g.88325110GT[18], NC_000013.10:g.88325110GT[19], NC_000013.10:g.88325110GT[20], NC_000013.10:g.88325110GT[21], NC_000013.10:g.88325110GT[22], NC_000013.10:g.88325110GT[23], NC_000013.10:g.88325110GT[24], NC_000013.10:g.88325110GT[25], NC_000013.10:g.88325110GT[26], NC_000013.10:g.88325110GT[28], NC_000013.10:g.88325110GT[29], NC_000013.10:g.88325110GT[30], NC_000013.10:g.88325110GT[31], NC_000013.10:g.88325110GT[32], NC_000013.10:g.88325110GT[33], NC_000013.10:g.88325110GT[34], NC_000013.10:g.88325110GT[35], NC_000013.10:g.88325110GT[36], NC_000013.10:g.88325110GT[37]

Select item 14913516313.

rs1491351631 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 13:87672854 (GRCh38)
13:88325109 (GRCh37)
Canonical SPDI:: NC_000013.11:87672853:GG:
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000027/3 (GnomAD)
HGVS:: NC_000013.11:g.87672854_87672855del, NC_000013.10:g.88325109_88325110del

Select item 14913328674.

rs1491332867 has merged into rs1382098074 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 13:87679864 (GRCh38)
13:88332119 (GRCh37)
Canonical SPDI:: NC_000013.11:87679862:TGT:T,NC_000013.11:87679862:TGT:TGTGT
Gene:: SLITRK5 (Varview), LOC112268106 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
-=0.00075/12 (TOMMO)
HGVS:: NC_000013.11:g.87679864_87679865del, NC_000013.11:g.87679864_87679865dup, NC_000013.10:g.88332119_88332120del, NC_000013.10:g.88332119_88332120dup

Select item 14909083275.

rs1490908327 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 13:87671977 (GRCh38)
13:88324232 (GRCh37)
Canonical SPDI:: NC_000013.11:87671970:AAGAAGAAG:AAGAAG
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,inframe_deletion,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.87671971AAG[2], NC_000013.10:g.88324226AAG[2], NM_001384609.1:c.-247AAG[2], XM_047430855.1:c.327CTT[2], XP_047286811.1:p.Phe111del

Select item 14908857136.

rs1490885713 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:87674499 (GRCh38)
13:88326754 (GRCh37)
Canonical SPDI:: NC_000013.11:87674498:G:A,NC_000013.11:87674498:G:C
Gene:: SLITRK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.87674499G>A, NC_000013.11:g.87674499G>C, NC_000013.10:g.88326754G>A, NC_000013.10:g.88326754G>C

Select item 14903897147.

rs1490389714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:87671040 (GRCh38)
13:88323295 (GRCh37)
Canonical SPDI:: NC_000013.11:87671039:A:T
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.87671040A>T, NC_000013.10:g.88323295A>T, XM_047430855.1:c.*741T>A

Select item 14902027928.

rs1490202792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:87677869 (GRCh38)
13:88330124 (GRCh37)
Canonical SPDI:: NC_000013.11:87677868:C:A,NC_000013.11:87677868:C:T
Gene:: SLITRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.87677869C>A, NC_000013.11:g.87677869C>T, NC_000013.10:g.88330124C>A, NC_000013.10:g.88330124C>T, NM_015567.2:c.2481C>A, NM_015567.2:c.2481C>T, NM_015567.1:c.2481C>A, NM_015567.1:c.2481C>T, NM_001384609.1:c.2481C>A, NM_001384609.1:c.2481C>T, NM_001384610.1:c.2481C>A, NM_001384610.1:c.2481C>T, NP_056382.1:p.His827Gln, NP_001371538.1:p.His827Gln, NP_001371539.1:p.His827Gln

Select item 14896305119.

rs1489630511 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:87672551 (GRCh38)
13:88324806 (GRCh37)
Canonical SPDI:: NC_000013.11:87672550:CCCCCC:CCCCC
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.87672556del, NC_000013.10:g.88324811del

Select item 148875745110.

rs1488757451 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 13:87679906 (GRCh38)
13:88332162 (GRCh37)
Canonical SPDI:: NC_000013.11:87679906::G
Gene:: SLITRK5 (Varview), LOC112268106 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000047/6 (GnomAD)
HGVS:: NC_000013.11:g.87679906_87679907insG, NC_000013.10:g.88332161_88332162insG

Select item 148870577811.

rs1488705778 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:87672827 (GRCh38)
13:88325082 (GRCh37)
Canonical SPDI:: NC_000013.11:87672826:T:C
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,splice_donor_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.87672827T>C, NC_000013.10:g.88325082T>C

Select item 148861315912.

rs1488613159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:87675750 (GRCh38)
13:88328005 (GRCh37)
Canonical SPDI:: NC_000013.11:87675749:A:G
Gene:: SLITRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.87675750A>G, NC_000013.10:g.88328005A>G, NM_015567.2:c.362A>G, NM_015567.1:c.362A>G, NM_001384609.1:c.362A>G, NM_001384610.1:c.362A>G, NP_056382.1:p.Glu121Gly, NP_001371538.1:p.Glu121Gly, NP_001371539.1:p.Glu121Gly

Select item 148850535513.

rs1488505355 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:87671884 (GRCh38)
13:88324139 (GRCh37)
Canonical SPDI:: NC_000013.11:87671883:A:G,NC_000013.11:87671883:A:T
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.87671884A>G, NC_000013.11:g.87671884A>T, NC_000013.10:g.88324139A>G, NC_000013.10:g.88324139A>T, NM_001384609.1:c.-334A>G, NM_001384609.1:c.-334A>T, XM_047430855.1:c.422T>C, XM_047430855.1:c.422T>A, XP_047286811.1:p.Leu141Pro, XP_047286811.1:p.Leu141His

Select item 148847120914.

rs1488471209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:87674872 (GRCh38)
13:88327127 (GRCh37)
Canonical SPDI:: NC_000013.11:87674871:C:G
Gene:: SLITRK5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.87674872C>G, NC_000013.10:g.88327127C>G

Select item 148779409615.

rs1487794096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:87672024 (GRCh38)
13:88324279 (GRCh37)
Canonical SPDI:: NC_000013.11:87672023:G:C
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.87672024G>C, NC_000013.10:g.88324279G>C, NM_001384609.1:c.-194G>C, XM_047430855.1:c.282C>G, XP_047286811.1:p.Asp94Glu

Select item 148775090816.

rs1487750908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 13:87678155 (GRCh38)
13:88330410 (GRCh37)
Canonical SPDI:: NC_000013.11:87678154:G:A,NC_000013.11:87678154:G:T
Gene:: SLITRK5 (Varview), LOC112268106 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.87678155G>A, NC_000013.11:g.87678155G>T, NC_000013.10:g.88330410G>A, NC_000013.10:g.88330410G>T, NM_015567.2:c.2767G>A, NM_015567.2:c.2767G>T, NM_015567.1:c.2767G>A, NM_015567.1:c.2767G>T, NM_001384609.1:c.2767G>A, NM_001384609.1:c.2767G>T, NM_001384610.1:c.2767G>A, NM_001384610.1:c.2767G>T, NP_056382.1:p.Val923Ile, NP_056382.1:p.Val923Phe, NP_001371538.1:p.Val923Ile, NP_001371538.1:p.Val923Phe, NP_001371539.1:p.Val923Ile, NP_001371539.1:p.Val923Phe

Select item 148755043117.

rs1487550431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:87676231 (GRCh38)
13:88328486 (GRCh37)
Canonical SPDI:: NC_000013.11:87676230:G:A
Gene:: SLITRK5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.87676231G>A, NC_000013.10:g.88328486G>A, NM_015567.2:c.843G>A, NM_015567.1:c.843G>A, NM_001384609.1:c.843G>A, NM_001384610.1:c.843G>A

Select item 148747008018.

rs1487470080 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:87669652 (GRCh38)
13:88321907 (GRCh37)
Canonical SPDI:: NC_000013.11:87669651:T:A
Gene:: SLITRK5 (Varview), MIR4500HG (Varview), LOC124900338 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000013.11:g.87669652T>A, NC_000013.10:g.88321907T>A

Select item 148684314719.

rs1486843147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:87675422 (GRCh38)
13:88327677 (GRCh37)
Canonical SPDI:: NC_000013.11:87675421:C:A
Gene:: SLITRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.87675422C>A, NC_000013.10:g.88327677C>A, NM_015567.2:c.34C>A, NM_015567.1:c.34C>A, NM_001384609.1:c.34C>A, NM_001384610.1:c.34C>A, NP_056382.1:p.Gln12Lys, NP_001371538.1:p.Gln12Lys, NP_001371539.1:p.Gln12Lys

Select item 148630818620.

rs1486308186 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:87677706 (GRCh38)
13:88329961 (GRCh37)
Canonical SPDI:: NC_000013.11:87677705:T:G
Gene:: SLITRK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.87677706T>G, NC_000013.10:g.88329961T>G, NM_015567.2:c.2318T>G, NM_015567.1:c.2318T>G, NM_001384609.1:c.2318T>G, NM_001384610.1:c.2318T>G, NP_056382.1:p.Val773Gly, NP_001371538.1:p.Val773Gly, NP_001371539.1:p.Val773Gly

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